Ophthalmology – Peripapillary Staphyloma

Basics

Description

Peripapillary staphyloma is a rare congenital optic nerve anomaly characterized by a deep excavation of the posterior fundus surrounding an otherwise relatively normal optic disc.

The optic disc lies at the bottom of the excavation and may appear:

• Normal
• Mildly pale
• Occasionally tilted or distorted by the surrounding ectasia

The surrounding:

• Retina
• Retinal pigment epithelium
• Choroid

often show atrophic or pigmentary changes.

This congenital lesion should be distinguished from the much more common acquired posterior staphyloma of pathologic myopia.

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Important Terminology

The older term posterior staphyloma can be confusing.

In this congenital optic-disc context, the preferred descriptive term is:

Peripapillary staphyloma

This is a developmental optic nerve anomaly.

By contrast, myopic posterior staphyloma is an acquired outward bulging of the posterior eyewall in pathologic myopia.

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Epidemiology

Peripapillary staphyloma is:

• Very rare
• Usually unilateral
• Congenital

It may occasionally be:

• Bilateral
• Associated with another congenital ocular anomaly in the fellow eye

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Genetics

Most cases are:

Sporadic

A consistent Mendelian inheritance pattern has not been established.

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Embryology and Pathogenesis

The exact mechanism is uncertain.

A developmental defect of the posterior globe is thought to occur after formation of the optic disc.

The result is:

Localized ectasia of the scleral and choroidal tissues surrounding the optic nerve

while the optic disc itself remains relatively normally formed.

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Key Anatomical Feature

The defining feature is:

A normal or near-normal optic disc situated at the base of a broad, deep peripapillary excavation.

This distinguishes peripapillary staphyloma from:

• Morning glory disc anomaly
• Optic disc coloboma

where the disc itself is directly malformed.

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Clinical Presentation

Patients may present with:

• Reduced unilateral visual acuity
• Strabismus
• Nystagmus if bilateral/severe
• Abnormal head posture
• Failed childhood vision screening

Some patients have surprisingly good vision despite striking anatomy.

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Visual Acuity

Visual acuity is highly variable.

It may range from:

• Near-normal vision
• Moderate visual impairment
• Severe visual loss

Reduced vision may result from:

• Congenital retinal/optic nerve dysfunction
• Macular involvement
• Refractive error
• Amblyopia
• Retinal detachment

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Refractive Error

Unlike myopic posterior staphyloma, the affected eye may be:

• Emmetropic
• Mildly myopic
• Occasionally hyperopic

Therefore:

High myopia is not required.

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Visual Field

A visual field defect may include:

• Central scotoma
• Cecocentral scotoma
• Other defects corresponding to abnormal posterior pole anatomy

Formal field testing is useful when age and visual function permit.

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Fundus Examination

Typical findings include:

• Deep bowl-shaped excavation surrounding optic nerve
• Optic disc at the bottom of the excavation
• Peripapillary chorioretinal atrophy
• Pigmentary changes at the margin
• Relatively normal retinal vessels emerging from the disc

Unlike morning glory anomaly, there is generally no:

• Central glial tuft
• Markedly abnormal radial vascular pattern

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Optic Disc

The optic disc itself may be:

• Normal in appearance
• Mildly pale
• Occasionally temporally pale

A normal-appearing disc within the excavation is diagnostically helpful.

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Contractile Movement

Rare cases have demonstrated:

Spontaneous contractile movement of the staphylomatous excavation

The mechanism is uncertain but may involve:

• Smooth-muscle-like or contractile tissue
• Changes in intraocular pressure or choroidal circulation

This phenomenon is unusual and not required for diagnosis.

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Associated Ocular Findings

Possible associations include:

• Strabismus
• Nystagmus
• Amblyopia
• Abnormal head posture
• Fellow-eye congenital anomalies

The contralateral eye should always be examined carefully.

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Retinal Detachment

The most important acquired complication is:

Retinal detachment

Detachment may be:

• Rhegmatogenous
• Tractional
• Serous in selected congenital excavation anomalies

Risk is related to abnormal posterior pole anatomy.

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Macular Involvement

Visual potential depends heavily on:

• Foveal development
• Macular position relative to the excavation
• Secondary retinal abnormalities

OCT is useful when the macula can be imaged.

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Diagnosis

Diagnosis is usually clinical based on:

• Characteristic fundus appearance
• Optic disc located at the base of a broad surrounding excavation
• Absence of classic features of morning glory disc anomaly or optic disc coloboma

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Optical Coherence Tomography

OCT can document:

• Depth and contour of the excavation
• Retinal layer architecture
• Macular involvement
• Peripapillary atrophy
• Associated schisis or detachment

Enhanced-depth imaging or swept-source OCT may further demonstrate:

• Choroid
• Scleral contour

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B-Scan Ultrasonography

B-scan may be useful to assess:

• Posterior globe contour
• Depth of excavation
• Associated retinal detachment

It can help distinguish a true posterior wall ectasia from optic-disc-only excavation.

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Fundus Photography

Wide-field or standard fundus photography is helpful for:

• Baseline documentation
• Monitoring structural change
• Demonstrating the relationship between optic disc and excavation

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OCT-A / Angiography

Not routinely required.

May be useful if there is concern for:

• Secondary choroidal neovascularization
• Vascular abnormality
• Associated retinal complication

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Differential Diagnosis

The major differentials are:

• Morning glory disc anomaly
• Optic disc coloboma
• Myopic posterior staphyloma
• Optic disc pit
• Tilted disc syndrome

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Peripapillary Staphyloma vs Morning Glory Disc Anomaly

Peripapillary Staphyloma

• Deep excavation surrounding the optic disc
• Disc itself relatively normal
• No central glial tuft
• Retinal vessels not classically arranged radially
• Usually no pigment ring encircling a malformed disc

Morning Glory Disc Anomaly

• Funnel-shaped excavation incorporating the disc
• Enlarged anomalous disc
• Central white glial tuft
• Radial spoke-like vessels
• Peripapillary pigment ring
• Associated with CNS and vascular anomalies, including moyamoya and basal encephalocele

This distinction is important because morning glory anomaly has much stronger systemic associations.

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Peripapillary Staphyloma vs Optic Disc Coloboma

Peripapillary Staphyloma

• Excavation surrounds the disc
• Disc relatively preserved
• No typical inferonasal embryonic fissure defect

Optic Disc Coloboma

• Excavation involves the optic disc itself
• Usually inferior or inferonasal
• May extend into adjacent choroid/retina
• Often associated with other colobomatous defects

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Peripapillary Staphyloma vs Myopic Posterior Staphyloma

Congenital Peripapillary Staphyloma

• Usually unilateral
• Congenital
• May occur without high myopia
• Optic-disc-centered excavation

Myopic Posterior Staphyloma

• Associated with pathologic axial myopia
• Acquired/progressive
• Outpouching of posterior eyewall
• May involve macula or other posterior pole regions
• Associated with myopic maculopathy, traction maculopathy, and CNV

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Treatment

There is:

No treatment that corrects the congenital staphylomatous excavation itself.

Management focuses on:

• Maximizing vision
• Treating amblyopia
• Correcting refractive error
• Managing strabismus
• Monitoring for retinal detachment

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Refractive Correction

Perform:

Cycloplegic refraction

particularly in children.

Correct:

• Myopia
• Hyperopia
• Astigmatism
• Anisometropia

to optimize visual potential.

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Amblyopia Therapy

If unilateral reduced vision is partly amblyopic, treatment may include:

• Spectacle correction
• Patching of the better eye
• Atropine penalization in selected cases

The response may be limited by underlying congenital retinal or optic nerve abnormalities.

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Strabismus

Strabismus may develop because of reduced vision.

Management may include:

• Amblyopia treatment first
• Prism in selected cases
• Strabismus surgery when appropriate

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Retinal Detachment

Retinal detachment requires:

Prompt vitreoretinal evaluation

Treatment depends on the mechanism and may include:

• Vitrectomy
• Laser photocoagulation
• Tamponade
• Other retinal surgical techniques

Surgery can be challenging because of abnormal posterior anatomy.

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Protective Eyewear

If one eye has substantially reduced vision:

Impact-resistant protective eyewear is recommended

to protect the better-seeing eye.

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Low-Vision Rehabilitation

For significant bilateral impairment, consider:

• Low-vision evaluation
• Magnification
• Educational accommodations
• Orientation and mobility support when necessary

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Follow-Up

Follow-up should include:

• Visual acuity
• Refraction
• Amblyopia assessment
• Alignment
• Dilated retinal examination
• OCT when useful

Frequency depends on:

• Age
• Visual function
• Retinal status
• Presence of complications

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Retinal Surveillance

Patients should be monitored for:

• New retinal breaks
• Retinal detachment
• Macular changes

Urgent assessment is warranted for:

• New flashes
• Floaters
• Curtain or shadow
• Sudden visual decline

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Pediatric Considerations

In children, the priority is to maximize visual development.

Evaluate promptly for:

• Refractive error
• Anisometropia
• Strabismus
• Amblyopia

Failure to treat a superimposed amblyopic component may unnecessarily reduce final visual acuity.

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Prognosis

Visual prognosis is highly variable.

Some patients retain:

• Good central vision

while others have substantial congenital visual impairment.

Outcome depends on:

• Macular anatomy
• Optic nerve function
• Degree of amblyopia
• Refractive error
• Development of retinal detachment

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Complications

The major complications are:

• Amblyopia
• Strabismus
• Retinal detachment
• Permanent visual loss

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Ophthalmology Pearls

• Peripapillary staphyloma is a congenital deep excavation surrounding a relatively normal optic disc.
• The optic disc lies at the bottom of the excavation, rather than being the malformed excavated structure itself.
• The lesion is usually unilateral and sporadic.
• High myopia is not required, distinguishing it from acquired myopic posterior staphyloma.
• The most important differentials are morning glory disc anomaly and optic disc coloboma.
• Morning glory anomaly has a central glial tuft, radial vessels, and funnel-shaped anomalous disc, while peripapillary staphyloma usually does not.
• Optic disc coloboma typically involves the disc itself, often inferiorly.
• OCT and B-scan can help define the posterior globe excavation and detect associated retinal pathology.
• There is no treatment for the congenital excavation itself.
• Management should maximize visual potential with refractive correction and amblyopia therapy.
• Patients require surveillance for retinal detachment, the major sight-threatening acquired complication.
• In unilateral disease with poor vision, recommend protective eyewear for the better eye.